Canonical Allele Identifier: CA395202720

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433481
• ClinVar RCV Id: RCV000499357
• dbSNP Id: rs1555523535
• MyVariant Identifiers: chr16:g.16315679G>A (hg19) ; chr16:g.16221822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16221822G>A , CM000678.2:g.16221822G>A	GRCh38
NC_000016.9:g.16315679G>A , CM000678.1:g.16315679G>A	GRCh37
NC_000016.8:g.16223180G>A	NCBI36
NG_007558.2:g.6650C>T
NG_007558.3:g.6796C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.46C>T	ENSP00000507301.1:p.Gln16Ter
ENST00000622290.5:c.46C>T	ENSP00000483331.2:p.Gln16Ter
ENST00000205557.12:c.46C>T MANE Select	ENSP00000205557.7:p.Gln16Ter
ENST00000205557.11:c.46C>T	ENSP00000205557.7:p.Gln16Ter
ENST00000456970.6:c.46C>T	ENSP00000405002.2:p.Gln16Ter
ENST00000574094.5:n.106C>T
ENST00000575728.1:c.46C>T	ENSP00000461686.1:p.Gln16Ter
ENST00000577103.1:c.46C>T	ENSP00000459243.1:p.Gln16Ter
ENST00000622290.4:c.46C>T	ENSP00000483331.1:p.Gln16Ter
NM_001079528.3:c.46C>T	NP_001072996.1:p.Gln16Ter
NM_001171.5:c.46C>T	NP_001162.4:p.Gln16Ter
XM_011522479.1:c.46C>T	XP_011520781.1:p.Gln16Ter
XM_011522482.1:c.46C>T	XP_011520784.1:p.Gln16Ter
XR_932836.1:n.281C>T
XR_932837.1:n.282C>T
XR_932838.1:n.282C>T
NM_001079528.4:c.46C>T	NP_001072996.1:p.Gln16Ter
NM_001351800.1:c.-328C>T	NP_001338729.1:n.-328C>T
NR_147784.1:n.83C>T
XM_011522479.2:c.46C>T	XP_011520781.1:p.Gln16Ter
XM_011522482.3:c.46C>T	XP_011520784.1:p.Gln16Ter
XM_017023212.1:c.46C>T	XP_016878701.1:p.Gln16Ter
XM_017023214.1:c.46C>T	XP_016878703.1:p.Gln16Ter
XM_024450261.1:c.46C>T	XP_024306029.1:p.Gln16Ter
XR_932836.2:n.227C>T
XR_932837.3:n.227C>T
XR_932838.3:n.227C>T
NM_001171.6:c.46C>T MANE Select	NP_001162.5:p.Gln16Ter